Antall József szerk.: Orvostörténeti közlemények 87-88. (Budapest, 1979)
TANULMÁNYOK - Czeizel, Endre: A heredodegeneraciós tan történeti értékelése (angol nyelven)
Schaffer's genetic knowledge and exceptional humaneness are best demonstrated perhaps in his views concerning the questions of eugenics. It is his merit mainly that no forced eugenic measures were introduced in Hungary in the 1930-s. Schaffer's greatness as a man and a scientist was manifested also in the school he created. His disciples achieved important, internationally acknowledged results in the most different fields of neurology. They did not enter, however, into the development of the doctrine of heredodegeneration towards human genetics. III. KÁROLY CSÖRSZ The third great personality to take the lion's share in the further development of the doctrine of heredodegeneration in Hungary: Károly Csörsz, dealt with neurologic diseases mainly from the hereditary aspect and with genetic methods. Thus he arrived from clinical genetics to population genetics. He was not Schaffer's disciple, but his spiritual influence can be felt in his views on eugenics and in lots of other questions. In the 14th volume of the Hirnpathologische Beiträge edited in honor of Schaffer's 70th birthday by his disciples, a study by Csörsz is included, too. Károly Csörsz (fig. 5.), son of poor peasants proved his ability under much harder circumstances than the two earlier developers of the doctrine of heredodegeneration in Hungary. Moreover his recurrent grave diseases and early death obstructed or hindered the full development of his talent. He worked at the Department of Neuropsychiatry in Debrecen and there he got into contact with heredodegenerative neurologic and later other clinical pictures. For the sake of a right genetic analysis he profoundly studied the investigation methods of human genetics. His lectures, reviews in the subject as well as his pedigree analyses attracting international attention testify of the high level he reached in his studies. I mention two of these latters. One of them is the verification of X-linked inheritance of ichthyosis. Earlier only the autosomal dominant mode of inheritance of ichthyosis had been known. (Although in 1927 Lundborgput forward the possibility of a type of X-linked inheritance [in a family 5 sons out of 11 were diseased, woman relatives being not affected at all], he could not definitely prove it.) However, the pedigree Csörsz brought out in 1928 proved beyond doubt the X-linked mode of inheritance of ichthyosis (fig. 6.). According to the pedigree 11 men out of 20 were diseased. (This, according to Weinberg's reduction method, corresponds almost exactly to the Mendelian rate of 50 per cent.) But the decisive proof was that in the fourth generation the disease occurred in two daughters. That is — seemingly — incompatible with X-linked inheritance. (According to the classical rule, on the one hand mothers can pass on the X-linked recessive disease [II/ 1, II/2, II/ 3, II/4, HI/9, IV/3] and 50 per cent of the sons get the disease, on the other hand, a diseased father's son can never be affected.) But the special interest of this pedigree lies in the consanguineous marriage and the progeny of III/ 11 man with ichthyosis and IV / 3 gene carrier (heterozygote) woman. In such cases there is a 50 per cent probability for daughters, too, to be homozygotes and thus they may be diseased. 2 daughters out of 3 were diseased actually, and that met the expectations. This pedigree is such a clear proof of the X-linked form of ichthyosis that handbooks of human genetics still mark